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Πέμπτη 20 Ιανουαρίου 2022

Ear, Nose, Throat, and Bronchial Involvements in VEXAS Syndrome

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VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic progenitor cells. Patients develop inflammatory and hematologic symptoms.

VEXAS causes symptoms that included blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles (unusual cavity-like structures) in myeloid cells.

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This case report describes 3 patients with VEXAS syndrome with atypical or not previously described ear, nose, and throat involvement.
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